ClinVar Miner

List of variants reported as likely pathogenic for Usher syndrome type 1

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 459
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298 0.00021
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000260.4(MYO7A):c.1A>G (p.Met1Val) rs797044518 0.00004
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_153676.4(USH1C):c.760-1G>T rs1187887456 0.00004
NM_000260.4(MYO7A):c.4006C>T (p.Gln1336Ter) rs750647872 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306 0.00003
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile) rs782787126 0.00002
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp) rs866352637 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) rs779165268 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_153676.4(USH1C):c.248+1G>A rs1482487617 0.00002
NM_173477.5(USH1G):c.46C>G (p.Leu16Val) rs876657419 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) rs397516281 0.00001
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp) rs1555067667 0.00001
NM_000260.4(MYO7A):c.1555-8C>G rs1057517774 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1591C>T (p.Gln531Ter) rs781951909 0.00001
NM_000260.4(MYO7A):c.1935+1G>C rs1343207038 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2157G>A (p.Trp719Ter) rs1461201353 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.224dup (p.Asp75fs) rs1224819887 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.285+1G>C rs782661097 0.00001
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557 0.00001
NM_000260.4(MYO7A):c.2878G>T (p.Glu960Ter) rs782131913 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.3924+1G>C rs1226046110 0.00001
NM_000260.4(MYO7A):c.4569-1G>A rs775792432 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5442T>A (p.Tyr1814Ter) rs1407313220 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.5856G>A (p.Lys1952=) rs1453053718 0.00001
NM_000260.4(MYO7A):c.5857-2A>G rs1555107286 0.00001
NM_000260.4(MYO7A):c.5945-1G>A rs1268984037 0.00001
NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) rs773844428 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.849+5G>A rs1060499716 0.00001
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter) rs370261904 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter) rs138983888 0.00001
NM_001384140.1(PCDH15):c.1997+1G>A rs763797356 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.3122+1G>T rs982893820 0.00001
NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) rs1200451014 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.3806+2T>C rs756692340 0.00001
NM_001384140.1(PCDH15):c.3807-2A>G rs1328440878 0.00001
NM_001384140.1(PCDH15):c.3983+1G>T rs758921360 0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter) rs137853003 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.4206+1G>A rs1204500829 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs) rs747516133 0.00001
NM_153676.4(USH1C):c.1039C>T (p.Gln347Ter) rs762551629 0.00001
NM_153676.4(USH1C):c.104+1G>A rs1287021691 0.00001
NM_153676.4(USH1C):c.2227-1G>T rs778110397 0.00001
NM_153676.4(USH1C):c.2281-2A>G rs921755529 0.00001
NM_153676.4(USH1C):c.2326dup (p.Ile776fs) rs758555088 0.00001
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509 0.00001
NM_153676.4(USH1C):c.463C>T (p.Arg155Ter) rs377145777 0.00001
NM_153676.4(USH1C):c.672C>A (p.Cys224Ter) rs1223763703 0.00001
NM_153676.4(USH1C):c.877-1G>A rs771279169 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NM_173477.5(USH1G):c.1373A>T (p.Asp458Val) rs397517925 0.00001
NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
NC_000010.10:g.(?_55580859)_(55591294_55600079)del
NM_000260.4(MYO7A):c.103C>T (p.Gln35Ter) rs1951307710
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) rs1591286221
NM_000260.4(MYO7A):c.109C>T (p.Gln37Ter) rs1951308166
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.117_132+6del rs1555051567
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1217T>A (p.Leu406Gln)
NM_000260.4(MYO7A):c.1237A>T (p.Lys413Ter)
NM_000260.4(MYO7A):c.133-2A>C rs782064437
NM_000260.4(MYO7A):c.1343+1G>A rs914189193
NM_000260.4(MYO7A):c.1348G>T (p.Glu450Ter)
NM_000260.4(MYO7A):c.1349A>T (p.Glu450Val) rs1555069238
NM_000260.4(MYO7A):c.1351C>T (p.Gln451Ter) rs1953058015
NM_000260.4(MYO7A):c.1423G>T (p.Glu475Ter) rs1953066164
NM_000260.4(MYO7A):c.1534G>T (p.Glu512Ter)
NM_000260.4(MYO7A):c.1583T>G (p.Leu528Arg) rs797044492
NM_000260.4(MYO7A):c.1583_1584del (p.Leu528fs)
NM_000260.4(MYO7A):c.1642C>T (p.Gln548Ter)
NM_000260.4(MYO7A):c.1679A>G (p.Tyr560Cys) rs2135312491
NM_000260.4(MYO7A):c.1691-2A>G rs1555072299
NM_000260.4(MYO7A):c.1798-1G>A rs1555076948
NM_000260.4(MYO7A):c.18+2T>A rs564622720
NM_000260.4(MYO7A):c.1804del (p.Glu602fs) rs2135406368
NM_000260.4(MYO7A):c.1843A>T (p.Lys615Ter) rs1954237712
NM_000260.4(MYO7A):c.1885C>T (p.Gln629Ter) rs1954248090
NM_000260.4(MYO7A):c.19-1G>A rs111033426
NM_000260.4(MYO7A):c.1905C>A (p.Cys635Ter) rs1954250327
NM_000260.4(MYO7A):c.1931_1932del (p.Pro644fs)
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.1974C>A (p.Tyr658Ter) rs1954477050
NM_000260.4(MYO7A):c.1974C>G (p.Tyr658Ter)
NM_000260.4(MYO7A):c.2077_2078delinsT (p.Lys693fs)
NM_000260.4(MYO7A):c.2089A>T (p.Lys697Ter)
NM_000260.4(MYO7A):c.2116del (p.Gln706fs)
NM_000260.4(MYO7A):c.2137_2138insAAAGGTT (p.Leu713fs)
NM_000260.4(MYO7A):c.2241_2242del (p.Arg747fs) rs1555080760
NM_000260.4(MYO7A):c.2253del (p.Gln752fs)
NM_000260.4(MYO7A):c.2283-2_2293del rs1555082041
NM_000260.4(MYO7A):c.2287_2288del (p.Asn763fs)
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) rs1591369118
NM_000260.4(MYO7A):c.2361C>A (p.Tyr787Ter) rs1555082145
NM_000260.4(MYO7A):c.2392C>T (p.Gln798Ter) rs1555082575
NM_000260.4(MYO7A):c.2425C>T (p.Gln809Ter)
NM_000260.4(MYO7A):c.2441del (p.Arg814fs)
NM_000260.4(MYO7A):c.2455C>T (p.Gln819Ter) rs1955017383
NM_000260.4(MYO7A):c.2472C>A (p.Cys824Ter) rs1407246264
NM_000260.4(MYO7A):c.2576_2577del (p.Leu859fs)
NM_000260.4(MYO7A):c.2648del (p.Glu883fs)
NM_000260.4(MYO7A):c.2702_2703insAA (p.Ala902fs)
NM_000260.4(MYO7A):c.2743G>T (p.Glu915Ter)
NM_000260.4(MYO7A):c.275_278dup (p.Ile94fs)
NM_000260.4(MYO7A):c.2779del (p.Glu927fs)
NM_000260.4(MYO7A):c.2782C>T (p.Gln928Ter) rs1955177223
NM_000260.4(MYO7A):c.2819C>A (p.Ser940Ter) rs1955180601
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.2839_2840insGTATAAGAGACAG (p.Phe947fs)
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter) rs782281371
NM_000260.4(MYO7A):c.2998A>T (p.Lys1000Ter)
NM_000260.4(MYO7A):c.3084C>A (p.Tyr1028Ter) rs1955281533
NM_000260.4(MYO7A):c.3109-2A>G
NM_000260.4(MYO7A):c.313del (p.Ala104_Val105insTer) rs1555061466
NM_000260.4(MYO7A):c.3271C>T (p.Gln1091Ter) rs1955333327
NM_000260.4(MYO7A):c.3298G>T (p.Glu1100Ter) rs782468194
NM_000260.4(MYO7A):c.32G>A (p.Trp11Ter) rs1307924861
NM_000260.4(MYO7A):c.3310A>T (p.Lys1104Ter) rs1555085978
NM_000260.4(MYO7A):c.33G>A (p.Trp11Ter) rs1555051419
NM_000260.4(MYO7A):c.3504-2A>G rs1555090168
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.3631-1G>C rs1555090885
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3779T>A (p.Leu1260Ter)
NM_000260.4(MYO7A):c.3815_3822del (p.Leu1272fs) rs1555091636
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys) rs373169422
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr) rs111033403
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.3982C>T (p.Gln1328Ter) rs1956130442
NM_000260.4(MYO7A):c.4018delinsCC (p.Ala1340fs) rs1555092993
NM_000260.4(MYO7A):c.4024del (p.Trp1342fs) rs1555093028
NM_000260.4(MYO7A):c.4108_4111del (p.Gln1370fs) rs1480697910
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.4126A>T (p.Lys1376Ter) rs1956149175
NM_000260.4(MYO7A):c.4153G>T (p.Glu1385Ter) rs1956480240
NM_000260.4(MYO7A):c.4184dup (p.Tyr1396fs) rs1555095933
NM_000260.4(MYO7A):c.4219G>T (p.Glu1407Ter) rs1956485578
NM_000260.4(MYO7A):c.4254del (p.Asp1419fs) rs1555096070
NM_000260.4(MYO7A):c.4321A>T (p.Lys1441Ter) rs1956496669
NM_000260.4(MYO7A):c.4363A>T (p.Lys1455Ter)
NM_000260.4(MYO7A):c.4423G>T (p.Glu1475Ter) rs1956761177
NM_000260.4(MYO7A):c.4432A>T (p.Lys1478Ter) rs1956761416
NM_000260.4(MYO7A):c.4502_4503del (p.Val1501fs) rs1555099541
NM_000260.4(MYO7A):c.4507G>T (p.Glu1503Ter) rs1956843097
NM_000260.4(MYO7A):c.4576del (p.Arg1526fs) rs1555100200
NM_000260.4(MYO7A):c.4642del (p.Gly1547_Leu1548insTer) rs1555100273
NM_000260.4(MYO7A):c.4659_4660del (p.Cys1554fs) rs1555100315
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.471-2A>C
NM_000260.4(MYO7A):c.4762G>T (p.Glu1588Ter) rs1181067492
NM_000260.4(MYO7A):c.47T>A (p.Leu16Ter) rs1052030
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.4828dup (p.Ala1610fs) rs1555100603
NM_000260.4(MYO7A):c.4845del (p.Asn1616fs) rs1555100625
NM_000260.4(MYO7A):c.4852+2T>C rs2135682219
NM_000260.4(MYO7A):c.4894del (p.Leu1632fs) rs1188637368
NM_000260.4(MYO7A):c.4919del (p.Gly1640fs) rs1555101858
NM_000260.4(MYO7A):c.4972C>T (p.Gln1658Ter) rs1401619267
NM_000260.4(MYO7A):c.5001_5002del (p.Tyr1668fs) rs1591467918
NM_000260.4(MYO7A):c.5013del (p.Thr1672fs) rs1555102041
NM_000260.4(MYO7A):c.5043+1G>T rs1555102147
NM_000260.4(MYO7A):c.5168+2T>C rs1192104600
NM_000260.4(MYO7A):c.5179A>T (p.Lys1727Ter)
NM_000260.4(MYO7A):c.517C>T (p.Gln173Ter) rs782347270
NM_000260.4(MYO7A):c.5209A>T (p.Lys1737Ter) rs1591474980
NM_000260.4(MYO7A):c.5229del (p.Leu1744fs) rs1555103458
NM_000260.4(MYO7A):c.5259del (p.Lys1753fs) rs1555103532
NM_000260.4(MYO7A):c.5275A>T (p.Lys1759Ter)
NM_000260.4(MYO7A):c.5481-1G>C rs1555105118
NM_000260.4(MYO7A):c.5488G>T (p.Glu1830Ter) rs768418736
NM_000260.4(MYO7A):c.5488dup (p.Glu1830fs) rs1555105135
NM_000260.4(MYO7A):c.548C>A (p.Ser183Ter)
NM_000260.4(MYO7A):c.5543del (p.Asn1848fs) rs1555105202
NM_000260.4(MYO7A):c.5610C>A (p.Cys1870Ter) rs1957393464
NM_000260.4(MYO7A):c.5655C>A (p.Tyr1885Ter) rs1957431273
NM_000260.4(MYO7A):c.5701C>T (p.Gln1901Ter) rs1406392019
NM_000260.4(MYO7A):c.5797del (p.Thr1933fs) rs1555106609
NM_000260.4(MYO7A):c.5842A>T (p.Lys1948Ter) rs1957520697
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.5960_5963dup (p.Tyr1989fs) rs1555107555
NM_000260.4(MYO7A):c.5967C>A (p.Tyr1989Ter) rs1957642707
NM_000260.4(MYO7A):c.6013A>T (p.Lys2005Ter) rs186644871
NM_000260.4(MYO7A):c.602del (p.Asn201fs)
NM_000260.4(MYO7A):c.6051+1G>A rs1403288739
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6071G>C (p.Arg2024Pro) rs770778096
NM_000260.4(MYO7A):c.6106C>T (p.Gln2036Ter) rs1957842461
NM_000260.4(MYO7A):c.6184G>T (p.Glu2062Ter) rs530700420
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000260.4(MYO7A):c.6231G>A (p.Trp2077Ter) rs1957851234
NM_000260.4(MYO7A):c.6238-1G>C rs1957902751
NM_000260.4(MYO7A):c.6238-2A>C rs1555109612
NM_000260.4(MYO7A):c.6252C>A (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6252C>G (p.Tyr2084Ter) rs1957904821
NM_000260.4(MYO7A):c.6355C>T (p.Gln2119Ter)
NM_000260.4(MYO7A):c.6403A>T (p.Lys2135Ter)
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.712G>T (p.Glu238Ter) rs1952532000
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys) rs782166819
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.767A>G (p.Tyr256Cys) rs2135244325
NM_000260.4(MYO7A):c.767del (p.Tyr256fs)
NM_000260.4(MYO7A):c.778G>T (p.Glu260Ter) rs1555064033
NM_000260.4(MYO7A):c.796C>T (p.Gln266Ter) rs2135244869
NM_000260.4(MYO7A):c.802A>T (p.Lys268Ter)
NM_000260.4(MYO7A):c.83_84del (p.Val28fs)
NM_000260.4(MYO7A):c.842T>A (p.Leu281Ter) rs1952585733
NM_000260.4(MYO7A):c.858C>A (p.Cys286Ter) rs1952682554
NM_000260.4(MYO7A):c.956C>A (p.Ser319Ter) rs782747153
NM_001142763.1:c.-189197_c.610-5166del
NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)
NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)
NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)
NM_001384140.1(PCDH15):c.1209T>G (p.Tyr403Ter) rs759187261
NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)
NM_001384140.1(PCDH15):c.1305+1G>A rs758947077
NM_001384140.1(PCDH15):c.1305+1G>C rs758947077
NM_001384140.1(PCDH15):c.1305+1del rs1554833699
NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)
NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) rs2133817680
NM_001384140.1(PCDH15):c.139del (p.Asp47fs) rs1555032952
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) rs1193650682
NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)
NM_001384140.1(PCDH15):c.1440+2T>C rs1363688830
NM_001384140.1(PCDH15):c.1441-2A>C rs758482449
NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)
NM_001384140.1(PCDH15):c.145G>T (p.Glu49Ter) rs1168400018
NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)
NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)
NM_001384140.1(PCDH15):c.157+1G>C rs1057516770
NM_001384140.1(PCDH15):c.158-2A>T rs1304228309
NM_001384140.1(PCDH15):c.1627del (p.Glu543fs) rs1057516892
NM_001384140.1(PCDH15):c.1637_1638del (p.Thr545_Tyr546insTer) rs1554816541
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter) rs1057517251
NM_001384140.1(PCDH15):c.1770_1771del (p.Pro591fs) rs1057517150
NM_001384140.1(PCDH15):c.1784+1G>T
NM_001384140.1(PCDH15):c.1785-2A>C rs1057516474
NM_001384140.1(PCDH15):c.1806T>G (p.Tyr602Ter) rs1057517443
NM_001384140.1(PCDH15):c.1830_1833del (p.Asn610fs) rs1057517261
NM_001384140.1(PCDH15):c.1917+2T>C rs1554806149
NM_001384140.1(PCDH15):c.1997+1G>T rs763797356
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.1A>G (p.Met1Val) rs1040514625
NM_001384140.1(PCDH15):c.2052C>A (p.Tyr684Ter) rs1554956088
NM_001384140.1(PCDH15):c.2091+2T>C rs1554956023
NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)
NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)
NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)
NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)
NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)
NM_001384140.1(PCDH15):c.2487dup (p.Glu830fs) rs757027638
NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)
NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)
NM_001384140.1(PCDH15):c.2624C>A (p.Ser875Ter) rs201328768
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter) rs143842048
NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs) rs758685587
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)
NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)
NM_001384140.1(PCDH15):c.299del (p.Gly100fs) rs1554940316
NM_001384140.1(PCDH15):c.29del (p.Cys10fs) rs1555135419
NM_001384140.1(PCDH15):c.3023del (p.Ala1008fs) rs1057517284
NM_001384140.1(PCDH15):c.3029A>G (p.Asp1010Gly) rs776416750
NM_001384140.1(PCDH15):c.3082del (p.His1028fs) rs1057517325
NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)
NM_001384140.1(PCDH15):c.3122+1G>A rs982893820
NM_001384140.1(PCDH15):c.3122+2T>A rs1554882546
NM_001384140.1(PCDH15):c.3123-1G>A rs1554873550
NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)
NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)
NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)
NM_001384140.1(PCDH15):c.3211del (p.Ile1071fs) rs1057516974
NM_001384140.1(PCDH15):c.3232+1G>A
NM_001384140.1(PCDH15):c.3233-2A>G rs1554872194
NM_001384140.1(PCDH15):c.323del (p.Pro108fs) rs1554934073
NM_001384140.1(PCDH15):c.333dup (p.His112fs) rs1057516992
NM_001384140.1(PCDH15):c.3341del (p.Val1114fs) rs1057516656
NM_001384140.1(PCDH15):c.3374-1G>T rs1554852472
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)
NM_001384140.1(PCDH15):c.3475dup (p.Met1159fs) rs746865307
NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) rs2133664431
NM_001384140.1(PCDH15):c.3501+1G>T rs1402893508
NM_001384140.1(PCDH15):c.3502-2A>G rs1554836566
NM_001384140.1(PCDH15):c.355del (p.Gln119fs)
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs) rs1057517264
NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)
NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)
NM_001384140.1(PCDH15):c.3653del (p.Phe1218fs) rs1057516268
NM_001384140.1(PCDH15):c.3717+1G>A rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T rs748706627
NM_001384140.1(PCDH15):c.3731_3734del (p.Asn1244fs) rs1554833314
NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)
NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)
NM_001384140.1(PCDH15):c.3791_3794del (p.Ile1264fs) rs1554833249
NM_001384140.1(PCDH15):c.3792_3798dup (p.Leu1267fs) rs1554833242
NM_001384140.1(PCDH15):c.3806+1G>C rs1554833227
NM_001384140.1(PCDH15):c.3885_3889dup (p.Ala1297fs) rs1057516780
NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)
NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)
NM_001384140.1(PCDH15):c.3984-1G>C rs1057520709
NM_001384140.1(PCDH15):c.3984-2A>G rs1554824185
NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)
NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)
NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)
NM_001384140.1(PCDH15):c.416_444del (p.Asp139fs) rs1057517182
NM_001384140.1(PCDH15):c.4197_4198insGTAG (p.Arg1400fs) rs1057516821
NM_001384140.1(PCDH15):c.4211+1G>A rs1554823229
NM_001384140.1(PCDH15):c.4211+1del rs1554823231
NM_001384140.1(PCDH15):c.4211+2dup rs1057517419
NM_001384140.1(PCDH15):c.4227T>A (p.Cys1409Ter) rs1057516472
NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs) rs1554822897
NM_001384140.1(PCDH15):c.4237_4238del (p.Ala1413fs) rs1554822891
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4313del (p.Pro1438fs) rs1057516351
NM_001384140.1(PCDH15):c.4367+1G>A rs1057516613
NM_001384140.1(PCDH15):c.4367+2T>C rs1554822703
NM_001384140.1(PCDH15):c.4671+1564del
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384140.1(PCDH15):c.574C>T (p.Gln192Ter) rs1943286459
NM_001384140.1(PCDH15):c.594+1G>T rs1057516470
NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)
NM_001384140.1(PCDH15):c.647T>G (p.Leu216Ter) rs1554903979
NM_001384140.1(PCDH15):c.705+1G>A rs1554903842
NM_001384140.1(PCDH15):c.706-3_717del rs769348776
NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)
NM_001384140.1(PCDH15):c.811dup (p.Val271fs)
NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)
NM_001384140.1(PCDH15):c.84T>A (p.Tyr28Ter) rs903145299
NM_001384140.1(PCDH15):c.876+1G>C rs2133646979
NM_001384140.1(PCDH15):c.901dup (p.Thr301fs) rs1057517048
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.2375dup (p.Pro793fs)
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3431-1G>A rs2132804878
NM_022124.6(CDH23):c.3839TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.5369-1G>A rs1564791773
NM_022124.6(CDH23):c.5924-1G>A rs1841212177
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del) rs774559018
NM_022124.6(CDH23):c.8064+1G>A rs1474524543
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr) rs1057519383
NM_033056.4(PCDH15):c.4368-15_4368-2del rs1057516560
NM_033056.4(PCDH15):c.4368-2A>T rs989521806
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer) rs1233449433
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_153676.4(USH1C):c.1020-2A>C rs147956944
NM_153676.4(USH1C):c.1139del (p.Gly379_Ser380insTer) rs1554960390
NM_153676.4(USH1C):c.1146dup (p.Gln383fs) rs1554960388
NM_153676.4(USH1C):c.1A>G (p.Met1Val) rs1554965967
NM_153676.4(USH1C):c.2185-2A>G rs1358056232
NM_153676.4(USH1C):c.2275A>T (p.Lys759Ter)
NM_153676.4(USH1C):c.2280+2T>C rs1554954681
NM_153676.4(USH1C):c.2281-1G>A rs1554954574
NM_153676.4(USH1C):c.2359del (p.Arg787fs)
NM_153676.4(USH1C):c.2381-2A>G rs1465352266
NM_153676.4(USH1C):c.2397_2398del (p.Asp800fs)
NM_153676.4(USH1C):c.2424_2431del (p.Lys808fs)
NM_153676.4(USH1C):c.2490+1G>T rs1554953746
NM_153676.4(USH1C):c.2490+2T>C rs1554953745
NM_153676.4(USH1C):c.2546+1G>T rs1554953350
NM_153676.4(USH1C):c.301_311del (p.Ser101fs)
NM_153676.4(USH1C):c.326_327insTAAAA (p.Cys110fs)
NM_153676.4(USH1C):c.387+1G>A
NM_153676.4(USH1C):c.546G>A (p.Trp182Ter)
NM_153676.4(USH1C):c.579+1G>C rs1283092935
NM_153676.4(USH1C):c.674+1G>A rs775496999
NM_153676.4(USH1C):c.674+1del rs1554961872
NM_153676.4(USH1C):c.674+2T>G rs1298596518
NM_153676.4(USH1C):c.748_759+5del rs1355262412
NM_153676.4(USH1C):c.819+1G>A rs1554961152
NM_153676.4(USH1C):c.81T>A (p.Tyr27Ter)
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_153676.4(USH1C):c.84_85insAAGAGACA (p.Val29fs)
NM_153676.4(USH1C):c.84_85insC (p.Val29fs)
NM_153676.4(USH1C):c.891_892del (p.Met298fs)
NM_153676.4(USH1C):c.913_925del (p.Ala305fs)
NM_153676.4(USH1C):c.916G>T (p.Glu306Ter)
NM_153676.4(USH1C):c.917_939dup (p.Gln315fs) rs761465345
NM_153676.4(USH1C):c.925_926insTG (p.Gln309fs)
NM_173477.5(USH1G):c.1004dup (p.Leu336fs) rs1359109336
NM_173477.5(USH1G):c.1311del (p.Lys438fs) rs886043626
NM_173477.5(USH1G):c.164+5G>A rs1337840598
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter) rs928656346
NP_005700.2(USH1C):p.Arg357Trp

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